scholarly journals Glucose transporter type 1 deficiency syndrome and the ketogenic diet

2019 ◽  
Vol 43 (2) ◽  
pp. 216-222 ◽  
Author(s):  
Marit Schwantje ◽  
Lilly M. Verhagen ◽  
Peter M. Hasselt ◽  
Sabine A. Fuchs
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome

Long-term effects of the ketogenic diet on growth in children with resistant drug epilepsy and Glucose Transporter Type 1 Deficiency Syndrome

2019 ◽  
Vol 29 (8) ◽  
pp. 884
Author(s):  
Cinzia Ferraris ◽  
Valentina De Giorgis ◽  
Ilaria Brambilla ◽  
Monica Guglielmetti ◽  
Claudia Trentani ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Long Term Effects

scholarly journals Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases

Nutrients ◽  
2019 ◽  
Vol 11 (7) ◽  
pp. 1442 ◽  
Author(s):  
Ferraris ◽  
Guglielmetti ◽  
Pasca ◽  
De Giorgis ◽  
Ferraro ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Growth Retardation ◽  
Glucose Transporter ◽  
Linear Growth ◽  
Deficiency Syndrome ◽  
Drug Resistant ◽  
Drug Resistant Epilepsy ◽  
Age Range ◽  
The Impact

Data on the impact of the ketogenic diet (KD) on children’s growth remain controversial. Here, we retrospectively investigated the occurrence of linear growth retardation in 34 children (47% males; age range: 2−17 years) diagnosed with drug-resistant epilepsy (DRE; n = 14) or glucose transporter type 1 deficiency syndrome (GLUT1-DS; n = 20) who had been treated with the KD for 12 months. The general characteristics of children with and without growth retardation were also compared. All participants received a full-calorie, traditional KD supplemented with vitamins, minerals, and citrate. Most children (80%; 11/14 in the DRE subgroup and 16/20 in the GLUT1-DS subgroup) treated with the KD did not show growth retardation at 12 months. Although participants with and without delay of growth did not differ in terms of baseline clinical characteristics, dietary prescriptions, or supplementation patterns, marked ketosis at 12 months tended to occur more frequently in the latter group. Altogether, our results indicate that growth retardation may occur in a minority of children treated with the KD. However, further research is required to identify children at risk and to clarify how increased ketones levels may affect endocrine pathways regulating growth during KD administration.

scholarly journals Positive Impact of a Modified Atkins Diet on Cognition, Seizures Control and Abnormal Movements in an Adult With Glucose Transporter Type 1 Deficiency Syndrome Deficiency Syndrome

2021 ◽  
Author(s):  
Luisa A. Diaz-Arias ◽  
Bobbie J. Henry-Barron ◽  
Alison Buchholz ◽  
Mackenzie C. Cervenka
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Diet Therapy ◽  
Deficiency Syndrome ◽  
Newly Diagnosed ◽  
Modified Atkins Diet ◽  
Abnormal Movements ◽  
Atkins Diet ◽  
The Brain

Glucose is the primary energy fuel used by the brain and is transported across the blood-brain barrier (BBB) by the glucose transporter type 1 and 2.[1] A GLUT1 genetic defect is responsible for glucose transporter type 1 deficiency syndrome (GLUT1DS). Patients with GLUT1DS may present with pharmaco-resistant epilepsy, developmental delay, microcephaly, and/or abnormal movements, with tremendous phenotypic variability. Diagnosis is made by the presence of specific clinical features, hypoglycorrhachia and an SLC2A1 gene mutation. Treatment with a ketogenic diet therapy (KDT) is the standard of care as it results in production of ketone bodies which can readily cross the BBB and provide an alternate energy source to the brain in the absence of glucose. KDTs have been shown to reduce seizures and abnormal movements in children diagnosed with GLUT1DS. However, little is known about the impact of KDT on cognitive function, seizures and movement disorders in adults newly diagnosed with GLUT1DS and started on a KDT in adulthood, or the appropriate ketogenic diet therapy to administer. This case report demonstrates the potential benefits of using a modified Atkins diet (MAD), a less restrictive ketogenic diet therapy on cognition, seizure control and motor function in an adult with newly-diagnosed GLUT1SD.

scholarly journals Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110346
Author(s):  
Jennifer Kramer ◽  
Lisa Smith
Keyword(s):  
Life Cycle ◽  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Genetic Test ◽  
Diet Therapy ◽  
Deficiency Syndrome ◽  
Close Monitoring ◽  
Glut 1 ◽  
Relative Rarity

A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.

SLC2A1 and Its Related Epileptic Phenotypes

2021 ◽  
Author(s):  
Francesca Patanè ◽  
Elisa Pasquetti ◽  
Federica Sullo ◽  
Monica Tosto ◽  
Catia Romano ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
De Novo ◽  
Deficiency Syndrome ◽  
De Novo Mutations ◽  
Gene Encoding ◽  
Slc2a1 Gene ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1

AbstractGlucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by heterozygous, mostly de novo, mutations in SLC2A1 gene encoding the glucose transporter GLUT1, the most relevant energy transporter in the blood–brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, to epilepsy, movement disorders, acquired microcephaly and atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports the diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet is the first-line treatment and should be established at the initial stages of disease.

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

2015 ◽  
Vol 114 ◽  
pp. 47-51 ◽  
Author(s):  
Felicitas Becker ◽  
Julian Schubert ◽  
Sarah Weckhuysen ◽  
Arvid Suls ◽  
Steffen Grüninger ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Glut1 Glucose Transporter

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome

2021 ◽  
Author(s):  
Kingthong Anurat ◽  
Chaiyos Khongkhatithum ◽  
Thipwimol Tim-Aroon ◽  
Chanin Limwongse ◽  
Lunliya Thampratankul
Keyword(s):  
Sleep Disorder ◽  
Developmental Delay ◽  
Daytime Sleepiness ◽  
Glucose Transporter ◽  
Focal Epilepsy ◽  
Deficiency Syndrome ◽  
Clinical Findings ◽  
Whole Body ◽  
Global Developmental Delay

AbstractGlucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Patient 1 was a 3.5-year-old boy who presented with paroxysmal loss of tone and weakness of the whole body with unresponsiveness after waking up. He also had excessive daytime sleepiness, insomnia, and restless sleep. His other clinical findings included focal seizures, paroxysmal exercise-induced dyskinesia (PED), ataxia, mild global developmental delay, and hyperactivity. Patient 2 was a 5.5-year-old boy who presented with drug-resistant focal epilepsy, global developmental delay, paroxysmal dystonia, and ataxia. A novel heterozygous nonsense variant of SLC2A1, c.1177G > T (p.Glu393*), classified as a pathogenic variant, was identified in both patients, but not in their parents' blood. After treatment with the modified Atkins diet, their neurological functions significantly improved. In conclusion, we reported two siblings with variable phenotypes of Glut1 DS with a novel nonsense mutation. Although sleep disorder and daytime somnolence were the nonclassical manifestations of Glut1 DS, the diagnostic evaluation of possible Glut1 DS in patients presented with daytime sleepiness, particularly in cases with the cooccurrence of seizures or movement disorders should be considered.

Sign in / Sign up

Export Citation Format

Share Document